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Assessing patient readiness for personalized genomic medicine
Open accessAbstract
The Human Genome Project and the continuing advances in DNA sequencing technology have ushered in a new era in genomic medicine. Successful translation of genomic medicine into clinical care will require that providers of this information are aware of the level of understanding, attitudes, perceived risks, benefits, and concerns of their patients. We used a mixed methods approach to conduct in-depth interviews with participants in the NCI-funded Breast Cancer Family Registry (BCFR). Our goal was to gain a better understanding of attitudes towards different types and amounts of genomic information, current interest in pursuing genomic testing, and perceived risks and benefits. We interviewed 32 women from the six BCFR sites in the USA, Canada, and Australia. In this sample of women with a personal or family history of breast cancer, we found high acknowledgement of the potential of genetics/genomics to improve their own health and that of their family members through lifestyle changes or alterations in their medical management. Respondents were more familiar with cancer genetics than the genetics of other diseases. Concerns about the testing itself included a potential sense of loss of control over health, feelings of guilt on passing on a mutation to a child, loss of privacy and confidentiality, questions about the test accuracy, and the potential uncertainty of the significance of test results. These data provide important insights into attitudes about the introduction of increasingly complex genetic testing, to inform interventions to prepare individuals for the introduction of this new technology into their clinical care.
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Some patients also doubt the accuracy of the tests or the value of the test results to influence their fate.
“Some patients also doubt the accuracy of the tests [63, 73] or the value of the test results to influence their fate [61].”
From Patients’ and professionals’ views related to ethical issues in precision medicine: a mixed research synthesis (2021) · cites this paper as [61]
In some studies, patients explicitly state that they do not want to know certain results, e.g., about a genetic predisposition to a disease, especially if it cannot be cured.
“In some studies, patients explicitly state that they do not want to know certain results, e.g., about a genetic predisposition to a disease [95], especially if it cannot be cured [61, 118].”
From Patients’ and professionals’ views related to ethical issues in precision medicine: a mixed research synthesis (2021) · cites this paper as [61]
Professionals, patients and representatives from patient organizations are concerned about whether health insurance companies will cover the costs or patients can pay for them.
“For example, professionals [45, 120], patients and representatives from patient organizations are concerned about whether health insurance companies will cover the costs [51, 63, 76] or patients can pay for them [61, 95, 96].”
From Patients’ and professionals’ views related to ethical issues in precision medicine: a mixed research synthesis (2021) · cites this paper as [61]
These burdens are factors that determine whether patients have PM tests or treatments performed.
“These burdens are factors that determine whether patients have PM tests or treatments performed [61, 67].”
From Patients’ and professionals’ views related to ethical issues in precision medicine: a mixed research synthesis (2021) · cites this paper as [61]
Several studies show that the large number of tests carried out in the course of PM is a considerable burden for patients, as it is associated with time spent waiting at a clinic and possibly with the need to travel.
“In addition, several studies show that the large number of tests carried out in the course of PM is a considerable burden for patients [71], as it is associated with time spent waiting at a clinic [59] and possibly with the need to travel [61].”
From Patients’ and professionals’ views related to ethical issues in precision medicine: a mixed research synthesis (2021) · cites this paper as [61]
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Research works printed but not linked: 20
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Cited by
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Erdmann, A., Rehmann-Sutter, C., & Bozzaro, C. (2021) · BMC Medical Ethics · doi:10.1186/s12910-021-00682-8 · Cited by 86
Metadata
- Authors
- Frost, C. J., Andrulis, I. L., Buys, S. S., Hopper, J. L., John, E. M., Terry, M. B., Bradbury, A., Chung, W. K., Colbath, K., Quintana, N., Gamarra, E., Egleston, B., Galpern, N., Bealin, L., Glendon, G., Miller, L. P., & Daly, M. B.
- Affiliations
- University of Utah (US)
- University of Toronto (CA)
- The University of Melbourne (AU)
- Cancer Prevention Institute of California (US)
- Columbia University (US)
- University of Pennsylvania (US)
- Fox Chase Cancer Center (US)
- University of Chicago (US)
- Corresponding author
- Daly, Mary B.
- ORCID
- Venue
- Journal of Community Genetics
- Published
- 2018-05-26
- Volume
- 10
- Issue
- 1
- Pages
- 109-120
- ISSN
- 1868-310X (ISSN-L)
- 1868-6001
- PMC
- PMC6325047
- OpenAlex
- W2804771897
- Cited by
- 14
- References
- 0
- Citations by year
- 2025: 2 · 2024: 1 · 2023: 2 · 2022: 5 · 2021: 2 · 2020: 1 · 2019: 1
- FWCI
- 0.61
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Locations
- Journal of Community Genetics (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Cancer Institute (UM1 CA164920)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Health Sciences › Health Professions › General Health Professions › Patient-Provider Communication in Healthcare
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Ethics in Clinical Research
- Keywords
- patient readiness, personalized genomic medicine, breast cancer, Breast Cancer Family Registry, perceived benefits and risks, genetic counseling
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